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Uncertain Genetic Test Results for Lynch Syndrome

NCT01646112 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 27

Last updated 2019-12-17

No results posted yet for this study

Summary

Background:

* Individuals have varying tolerances for receiving ambiguous information. However, not much is known about how ambiguous genetic testing information is received. Also, not much is known about how at-risk individuals internalize and process these results. More information is needed about how this information affects a person s life.
* Lynch Syndrome is a genetic condition that carries a high risk of colon cancer and other cancers. Individuals at risk for Lynch Syndrome can have genetic testing for it. The test may confirm a diagnosis and determine actions that can be taken. Results from genetic testing can also affect the perspectives of relatives who might also be affected. However, genetic testing can also produce variants of unknown significance (VUS). VUS are data that may not provide enough information to make decisions. Researchers want to study people who have received a VUS result for genetic testing for Lynch Syndrome.

Objectives:

\- To learn more about the impact and experience of receiving a VUS for Lynch Syndrome genetic testing.

Eligibility:

\- Individuals at least 18 years of age who have recently had a VUS result on a genetic test for Lynch Syndrome.

Design:

* Participants will be asked to answer demographic questions. They will also have a 45- to 60-minute phone interview.
* During the phone interview, participants will be asked a series of questions about their diagnosis. They will be asked about how they received the result and how they felt right after receiving it. They will also discuss who they have spoken to about the result.

Conditions

  • HNPCC

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Barbara B Biesecker · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-04-25
Completion
2016-02-05

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01646112 on ClinicalTrials.gov